Sporadic and familial CJD: Classification and characterisation

Pierluigi Gambetti, Qingzhong Kong, Wenquan Zou, Piero Parchi, Shu G. Chen

Research output: Contribution to journalArticlepeer-review


Prion diseases are unique transmissible neurodegenerative diseases that have diverse phenotypes and can be familial, sporadic, or acquired by infection. Recent findings indicate that the PrP genotype and the PrPSc type have a major influence on the disease phenotype in both sporadic and familial human prion diseases. This review attempts to classify and characterise sporadic and familial Creutzfeldt-Jakob disease (CJD) as a function of these two disease determinants. Based on the genotype at codon 129 on both PRNP alleles, the size of protease resistant PrPSc fragments and disease phenotype, we divide sporadic CJD into six subtypes: sCJDMM1/sCJDMV1, sCJDVV2, sCJDMV2, sCJDMM2, sCJDVV1, and sporadic fatal insomnia (sFI). Familial CJD is classified into many haplotypes based on the PRNP mutation and codon 129 (and other polymorphic codons) on the mutant allele. The clinical and pathological features are summarised for each sporadic CJD subtype and familial CJD haplotype.

Original languageEnglish
Pages (from-to)213-239
Number of pages27
JournalBritish Medical Bulletin
Publication statusPublished - 2003

ASJC Scopus subject areas

  • Medicine(all)


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